Primary intestinal lymphangiectasia (Waldmann's disease)

Department of Lymphology, Centre de référence des maladies vasculaires rares, Hôpital Cognacq-Jay, 15, rue Eugène Millon, 75015 Paris, France.
Orphanet Journal of Rare Diseases (Impact Factor: 3.36). 02/2008; 3(1):5. DOI: 10.1186/1750-1172-3-5
Source: PubMed


Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is unknown. The main symptom is predominantly bilateral lower limb edema. Edema may be moderate to severe with anasarca and includes pleural effusion, pericarditis or chylous ascites. Fatigue, abdominal pain, weight loss, inability to gain weight, moderate diarrhea or fat-soluble vitamin deficiencies due to malabsorption may also be present. In some patients, limb lymphedema is associated with PIL and is difficult to distinguish lymphedema from edema. Exsudative enteropathy is confirmed by the elevated 24-h stool alpha1-antitrypsin clearance. Etiology remains unknown. Very rare familial cases of PIL have been reported. Diagnosis is confirmed by endoscopic observation of intestinal lymphangiectasia with the corresponding histology of intestinal biopsy specimens. Videocapsule endoscopy may be useful when endoscopic findings are not contributive. Differential diagnosis includes constrictive pericarditis, intestinal lymphoma, Whipple's disease, Crohn's disease, intestinal tuberculosis, sarcoidosis or systemic sclerosis. Several B-cell lymphomas confined to the gastrointestinal tract (stomach, jejunum, midgut, ileum) or with extra-intestinal localizations were reported in PIL patients. A low-fat diet associated with medium-chain triglyceride supplementation is the cornerstone of PIL medical management. The absence of fat in the diet prevents chyle engorgement of the intestinal lymphatic vessels thereby preventing their rupture with its ensuing lymph loss. Medium-chain triglycerides are absorbed directly into the portal venous circulation and avoid lacteal overloading. Other inconsistently effective treatments have been proposed for PIL patients, such as antiplasmin, octreotide or corticosteroids. Surgical small-bowel resection is useful in the rare cases with segmental and localized intestinal lymphangiectasia. The need for dietary control appears to be permanent, because clinical and biochemical findings reappear after low-fat diet withdrawal. PIL outcome may be severe even life-threatening when malignant complications or serous effusion(s) occur.

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    • "Although octreotide may help to maintain serum albumin levels and decrease the need for albumin infusions, results were variable among a small number of patients [9]. Albumin infusion appears to only transiently relieve symptoms [1]. Small bowel resection for PIL can be Fig. 1. "
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    ABSTRACT: Primary intestinal lymphangiectasia is a rare disorder characterized by severe protein-losing enteropathy resulting in lymphopenia, hypoalbuminemia, and hypogammaglobulinemia. It may be associated with limb lymphedema, chylous ascites, and abdominal lymphatic malformations. We describe a 20 year-old female with progressive primary intestinal lymphangiectasia, severe bilateral lower extremity lymphedema and a massive abdominal and retroperitoneal lymphatic malformation who developed debilitating symptoms and protein/calorie malnutrition. Our treatment approach included multidisciplinary management and eventual surgical debulking resection. Although the management of primary intestinal lymphangiectasia is usually medical, in the rare case of primary intestinal lymphangiectasia with associated chylous ascites and extensive abdominal lymphatic malformation, surgical resection appears to be a safe and successful strategy to improve nutrition and quality of life. As in the present case, complex and severe vascular anomalies necessitate a combined treatment approach, which is available at multidisciplinary vascular anomalies centers.
    Full-text · Article · Dec 2013 · Journal of Pediatric Surgery Case Reports
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    • "In our study both patients presented common clinical manifestations of PIL, such as intermittent diarrhea, malabsorptive syndrome and failure to thrive in the first case, while an abrupt and symmetric eyelid edema was the most conspicuous clinical symptom in the second case. PIL diagnosis in our patients was achieved under the age of 3 years in both patients as it is also reported in other studies [1, 2, 9, 10]. In regards to the first case the lack of clinical response to an amino acid formula suggested that the diagnosis of cow's milk allergy was unlikely. "
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    ABSTRACT: Primary intestinal lymphangiectasia (PIL) or Waldmann's disease is a rare protein-losing gastroenteropathy of unknown etiology. Less than 200 cases have been reported globally. Patients may be asymptomatic or present edema, lymphedema, diarrhea, ascites and other manifestations. We report two pediatric cases with PIL with extremely different outcome in a 3-year follow-up period. The first patient presented with persistent diarrhea, hypoalbuminemia and failure to thrive, while the second patient presented with an abrupt eyelid edema. Hypoproteinemia was the common laboratory finding for the two patients and upper gastrointestinal endoscopy established the diagnosis. The first patient relapsed five times during the follow-up period after the diagnosis had been made and required intravenous albumin administration and micronutrient supplementation. The second patient revealed normal gastrointestinal endoscopy 4 months after the diagnosis had been established; he followed an unrestricted diet and remained asymptomatic throughout the follow-up period. PIL can be either severe, affecting the entire small bowel, leading to lifetime disease, or sometimes affects part of the small bowel, leading to transient disorder.
    Full-text · Article · Mar 2013 · Case Reports in Gastroenterology
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    • "Primary intestinal lymphangiectasia (PIL), also named Waldmann’s disease, is a rare disorder characterized by exudative enteropathy resulting from morphologic abnormalities of the intestinal lymphatics [1]. Edema (moderate to severe with pleural effusion, pericarditis, or chylous ascites) is the main clinical manifestation but lymphedema, fatigue, abdominal pain, weight loss, moderate diarrhea, and fat-soluble vitamin deficiencies may also be present [1]. Patients can also develop hypocalcemia secondary to failure to absorb fat and fat-soluble vitamins. "
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    ABSTRACT: Introduction Primary intestinal lymphangiectasia is a disorder characterized by exudative enteropathy resulting from morphologic abnormalities of the intestinal lymphatics. Intestinal lymphangiectasia can be primary or secondary, so the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A double-balloon enteroscopy and biopsy, as well as the pathology can be used to confirm the diagnosis of intestinal lymphangiectasia. A polymeric diet containing medium-chain triglycerides and total parenteral nutrition may be a useful therapy. Case presentation A 17-year-old girl of Mongoloid ethnicity was admitted to our hospital with a history of diarrhea and edema. She was diagnosed with protein-losing enteropathy caused by intestinal lymphangiectasia. This was confirmed by a double-balloon enteroscopy and multi-dot biopsy. After treatment with total parenteral nutrition in hospital, which was followed by a low-fat and medium-chain triglyceride diet at home, she was totally relieved of her symptoms. Conclusion Intestinal lymphangiectasia can be diagnosed with a double-balloon enteroscopy and multi-dot biopsy, as well as the pathology of small intestinal tissue showing edema of the submucosa and lymphangiectasia. Because intestinal lymphangiectasia can be primary or secondary, the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A positive clinical response to the special diet therapy, namely a low-fat and medium-chain triglyceride diet, can further confirm the diagnosis of primary intestinal lymphangiectasia.
    Full-text · Article · Jan 2013 · Journal of Medical Case Reports
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